HGVS | Genome Assembly |
---|---|
NC_000011.10:g.18033777G>T , CM000673.2:g.18033777G>T | GRCh38 |
NC_000011.9:g.18055324G>T , CM000673.1:g.18055324G>T | GRCh37 |
NC_000011.8:g.18011900G>T | NCBI36 |
NG_011947.1:g.12012C>A | |
NG_011947.2:g.12012C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682019.1:c.302-403C>A MANE Select | ENSP00000508368.1:n.302-403C>A | |
ENST00000250018.6:c.302-403C>A | ENSP00000250018.2:n.302-403C>A | |
ENST00000417164.5:c.302-403C>A | ENSP00000403831.1:n.302-403C>A | |
ENST00000528338.1:c.332-403C>A | ENSP00000436081.1:n.332-403C>A | |
NM_004179.2:c.302-403C>A | NP_004170.1:n.302-403C>A | |
NM_004179.3:c.302-403C>A MANE Select | NP_004170.1:n.302-403C>A |